Linked Data
ClinVar Variation Id:
1349222
ClinVar RCV Id:
RCV002051003
dbSNP Id:
rs754906673
ExAC:
16:773933 C / T
gnomAD v2:
16-773933-C-T
gnomAD v3:
16-723933-C-T
gnomAD v4:
16-723933-C-T
COSMIC:
COSM3387615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723933C>T , CM000678.2:g.723933C>T | GRCh38 |
| NC_000016.9:g.773933C>T , CM000678.1:g.773933C>T | GRCh37 |
| NC_000016.8:g.713934C>T | NCBI36 |
| NG_032932.1:g.7541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1600G>A (CCDC78) | ||
| ENST00000345165.10:c.1057G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Gly353Ser | |
| ENST00000293889.10:c.1057G>A (CCDC78) | ENSP00000293889.6:p.Gly353Ser | |
| ENST00000345165.8:c.603G>A (CCDC78) | ||
| ENST00000463539.5:n.1379G>A (CCDC78) | ||
| ENST00000466708.5:n.1401G>A (CCDC78) | ||
| ENST00000478979.5:n.1704G>A (CCDC78) | ||
| ENST00000481804.5:n.2035G>A (CCDC78) | ||
| ENST00000482152.1:n.418G>A (CCDC78) | ||
| ENST00000482878.5:n.2107G>A (CCDC78) | ||
| ENST00000485091.5:n.1210G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-38699C>T (MSLN) | ENSP00000482893.1:n.-49-38699C>T | |
| NM_001031737.2:c.1057G>A (CCDC78) | NP_001026907.2:p.Gly353Ser | |
| XM_006720838.1:c.1279G>A (CCDC78) | XP_006720901.1:p.Gly427Ser | |
| XM_006720843.2:c.1057G>A (CCDC78) | XP_006720906.1:p.Gly353Ser | |
| XM_011522356.1:c.1504G>A (CCDC78) | XP_011520658.1:p.Gly502Ser | |
| XM_011522357.1:c.1492G>A (CCDC78) | XP_011520659.1:p.Gly498Ser | |
| XM_011522358.1:c.1504G>A (CCDC78) | XP_011520660.1:p.Gly502Ser | |
| XM_011522359.1:c.1471G>A (CCDC78) | XP_011520661.1:p.Gly491Ser | |
| XM_011522360.1:c.1459G>A (CCDC78) | XP_011520662.1:p.Gly487Ser | |
| XM_011522361.1:c.1504G>A (CCDC78) | XP_011520663.1:p.Gly502Ser | |
| XM_011522362.1:c.1504G>A (CCDC78) | XP_011520664.1:p.Gly502Ser | |
| XM_011522363.1:c.1504G>A (CCDC78) | XP_011520665.1:p.Gly502Ser | |
| XM_011522364.1:c.1504G>A (CCDC78) | XP_011520666.1:p.Gly502Ser | |
| XM_011522365.1:c.1291G>A (CCDC78) | XP_011520667.1:p.Gly431Ser | |
| XM_011522366.1:c.1282G>A (CCDC78) | XP_011520668.1:p.Gly428Ser | |
| XM_011522367.1:c.1123G>A (CCDC78) | XP_011520669.1:p.Gly375Ser | |
| XM_011522368.1:c.1111G>A (CCDC78) | XP_011520670.1:p.Gly371Ser | |
| XM_011522369.1:c.1069G>A (CCDC78) | XP_011520671.1:p.Gly357Ser | |
| XM_011522370.1:c.901G>A (CCDC78) | XP_011520672.1:p.Gly301Ser | |
| XM_011522371.1:c.616G>A (CCDC78) | XP_011520673.1:p.Gly206Ser | |
| XM_006720843.4:c.1057G>A (CCDC78) | XP_006720906.1:p.Gly353Ser | |
| XM_011522358.2:c.1504G>A (CCDC78) | XP_011520660.1:p.Gly502Ser | |
| XM_011522371.2:c.616G>A (CCDC78) | XP_011520673.1:p.Gly206Ser | |
| XM_017022929.1:c.1504G>A (CCDC78) | XP_016878418.1:p.Gly502Ser | |
| XM_017022930.1:c.604G>A (CCDC78) | XP_016878419.1:p.Gly202Ser | |
| XM_017022931.1:c.-197G>A (CCDC78) | XP_016878420.1:n.-197G>A | |
| XM_024450150.1:c.334G>A (CCDC78) | XP_024305918.1:p.Gly112Ser | |
| XR_001751835.1:n.1843G>A (CCDC78) | ||
| XR_001751836.1:n.1822G>A (CCDC78) | ||
| XR_001751837.1:n.1600G>A (CCDC78) | ||
| XR_001751838.1:n.1946G>A (CCDC78) | ||
| XR_001751839.1:n.1408G>A (CCDC78) | ||
| NM_001031737.3:c.1057G>A (CCDC78) | NP_001026907.2:p.Gly353Ser | |
| NM_001378030.1:c.1057G>A (CCDC78) MANE Select | NP_001364959.1:p.Gly353Ser | |
| NM_001378031.1:c.953+389G>A (CCDC78) | NP_001364960.1:n.953+389G>A | |
| NM_001378033.1:c.490G>A (CCDC78) | NP_001364962.1:p.Gly164Ser | |
| NR_165382.1:n.1614G>A (CCDC78) | ||
| NR_165383.1:n.1260G>A (CCDC78) | ||
| NR_165384.1:n.1225G>A (CCDC78) | ||
| NR_165385.1:n.1325G>A (CCDC78) | ||
| NR_165386.1:n.1392G>A (CCDC78) |